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Autoimmune polyendocrine syndrome type 1 (APS I) in Norway
A G Myhre1, M Halonen, P Eskelin
1Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, Bergen, Norway. Anne.Myhre@med.uib.no
Clinical Endocrinology
|February 24, 2001
Summary
Autoimmune Polyendocrine Syndrome Type I (APS I) in Norway affects approximately 1 in 80,000 individuals, presenting similarly to European cases. Early diagnosis through autoantibody and AIRE gene mutation analysis is crucial to prevent severe complications.
Area of Science:
- Endocrinology
- Immunology
- Genetics
Background:
- Autoimmune Polyendocrine Syndrome Type I (APS I) is a rare genetic disorder.
- Understanding its prevalence and clinical spectrum in different populations is essential for diagnosis and management.
Purpose of the Study:
- To investigate the occurrence and clinical presentation of APS I in Norwegian patients.
- To analyze autoantibody reactivity and autoimmune regulator (AIRE) gene mutations in this cohort.
Main Methods:
- Study included 20 Norwegian patients from 15 families diagnosed with APS I.
- Clinical data collected via questionnaires and patient records.
- Autoantibodies analyzed using radioimmunoassays; AIRE gene mutations identified through DNA sequencing.
Main Results:
- Estimated APS I prevalence in Norway is 1:80,000.
- Clinical presentation similar to Finnish and other European patients, often with delayed diagnosis.
- Four AIRE gene mutations identified, with a 13-bp deletion in exon 8 being most common (55% of alleles).
- 85% of patients had autoantibodies against 21-hydroxylase or aromatic L-amino acid decarboxylase.
- Ovarian failure was frequent in women, associated with antibodies against side-chain cleavage enzyme.
Conclusions:
- Norwegian APS I patients exhibit clinical features consistent with other European populations.
- Early consideration of APS I in children/adolescents with specific symptoms (candidiasis, adrenal failure, hypoparathyroidism) is vital.
- Autoantibody and AIRE gene mutation analyses are valuable early diagnostic tools for APS I.